Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency
Background Although most individuals effectively control herpesvirus infections, some suffer
from severe and/or recurrent infections. A subset of these patients possess defects in natural
killer (NK) cells, lymphocytes that recognize and lyse herpesvirus-infected cells; however,
the genetic etiology is rarely diagnosed. PLCG2 encodes a signaling protein in NK-cell and
B-cell signaling. Dominant-negative or gain-of-function variants in PLCG2 cause cold
urticaria, antibody deficiency, and autoinflammation. However, loss-of-function variants and …
from severe and/or recurrent infections. A subset of these patients possess defects in natural
killer (NK) cells, lymphocytes that recognize and lyse herpesvirus-infected cells; however,
the genetic etiology is rarely diagnosed. PLCG2 encodes a signaling protein in NK-cell and
B-cell signaling. Dominant-negative or gain-of-function variants in PLCG2 cause cold
urticaria, antibody deficiency, and autoinflammation. However, loss-of-function variants and …
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